Research panel - Severe Paediatric Disorders
Gene: MAP3K20

MAP3K20 (mitogen-activated protein kinase kinase kinase 20)
EnsemblGeneIds (GRCh38): ENSG00000091436
EnsemblGeneIds (GRCh37): ENSG00000091436
OMIM: 609479, Gene2Phenotype
MAP3K20 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MAP3K20; Recommended initial gene rating: Green List (high evidence); Phenotypes: Centronuclear myopathy 6 with fiber-type disproportion, 617760 (3) | Split-foot malformation with mesoaxial polydactyly, 616890 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695
Split-foot malformation with mesoaxial polydactyly, OMIM:616890
Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816

OMIM

609479

Clinvar variants

Variants in MAP3K20

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MAP3K20 were changed from Split-foot malformation with mesoaxial polydactyly, 616890; Centronuclear myopathy 6 with fiber-type disproportion, 617760 to Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695; Split-foot malformation with mesoaxial polydactyly, OMIM:616890; Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816

21 Feb 2020, Gel status: 3